ClinVar Miner

Submissions for variant NM_000144.5(FXN):c.626A>G (p.Asp209Gly) (rs74621026)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178718 SCV000230855 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617851 SCV000735337 likely benign Cardiovascular phenotype 2018-02-05 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Insufficient or conflicting evidence;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000178718 SCV001880572 benign not specified 2020-10-26 criteria provided, single submitter clinical testing

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